CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Hereditary Melanoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501262
rs1060501262 		1.000 0.120 9 21994138 splice donor variant C/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060501263
rs1060501263 		1.000 0.120 9 21971001 frameshift variant C/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060501265
rs1060501265 		1.000 0.120 9 21974676 splice donor variant A/G snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554653915
rs1554653915 		1.000 0.120 9 21970966 splice donor variant GCGCAGGTACCGT/CGCATC delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554654052
rs1554654052 		1.000 0.120 9 21971076 frameshift variant C/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554656624
rs1554656624 		1.000 0.120 9 21974798 frameshift variant C/- del
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1563888944
rs1563888944 		1.000 0.120 9 21970998 frameshift variant -/TC delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1563889847
rs1563889847 		1.000 0.120 9 21971161 frameshift variant -/T delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123152
rs398123152 		1.000 0.120 9 21974721 frameshift variant -/C delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786204195
rs786204195 		0.851 0.200 9 21974686 missense variant G/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs876658534
rs876658534 		0.925 0.120 9 21971156 missense variant GC/AA mnv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs876660436
rs876660436 		1.000 0.120 9 21971025 missense variant G/C;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs878853644
rs878853644 		1.000 0.120 9 21974677 splice donor variant C/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs104894097
rs104894097 		0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 16 1995 2015
dbSNP: rs104894095
rs104894095 		0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 12 1995 2015
dbSNP: rs749714198
rs749714198 		0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 12 1994 2016
dbSNP: rs1554653956
rs1554653956 		1.000 0.120 9 21971004 frameshift variant CCAGGTCCACGGGCAG/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 11 1995 2016
dbSNP: rs104894109
rs104894109 		0.925 0.120 9 21971192 missense variant C/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 10 1998 2014
dbSNP: rs104894099
rs104894099 		0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 9 1998 2016
dbSNP: rs587780668
rs587780668 		0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 9 1995 2015
dbSNP: rs878853647
rs878853647 		0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 9 1994 2013
dbSNP: rs1800586
rs1800586 		0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 1999 2010
dbSNP: rs45476696
rs45476696 		0.925 0.200 9 21970902 stop gained C/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 1998 2015
dbSNP: rs559848002
rs559848002 		0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 1994 2012
dbSNP: rs730881675
rs730881675 		0.925 0.200 9 21971106 frameshift variant TCGTGCACGGGTCG/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 1994 2011